Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13

The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebe...

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Autors principals: Subramony, SH, Advincula, Joel, Perlman, Susan, Rosales, Raymond L., Lee, Lillian V., Ashizawa, Tetsuo, Waters, Michael F.
Format: Artigo
Idioma:Inglês
Publicat: Springer US 2013
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Original Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3824261/
https://ncbi.nlm.nih.gov/pubmed/23912307
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-013-0507-6
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